A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish
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چکیده
منابع مشابه
A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish
Presently, human collagen VI-related diseases such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) remain incurable, emphasizing the need to unravel their etiology and improve their treatments. In UCMD, symptom onset occurs early, and both diseases aggravate with ageing. In zebrafish fry, morpholinos reproduced early UCMD and BM symptoms but did not allow to study the ...
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deployable scissor type structures are composed of the so-called scissor-like elements (sles), which are connected to each other at an intermediate point through a pivotal connection and allow them to be folded into a compact bundle for storage or transport. several sles are connected to each other in order to form units with regular polygonal plan views. the sides and radii of the polygons are...
Bethlem myopathy in a Taiwanese family.
We report three cases of Bethlem myopathy from three consecutive generations of a Taiwanese family, including one woman aged 70, one man aged 40, and a boy aged 8. The clinical features of the patients included autosomal dominant inheritance, childhood or adolescent onset, mainly proximal and extensor involvement, early diffuse joint contractures, and absence of cardiac involvement. These featu...
متن کاملMuscle MRI in Bethlem myopathy.
To cite: Morrow JM, Pitceathly RDS, Quinlivan RM, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013008596 DESCRIPTION A 44-year-old man presented with progressive limb girdle weakness from 10 years of age. The inheritance pattern was autosomal dominant; two siblings, his mother and maternal grandfather were similarly affected. On examination there was an...
متن کاملGenetic localization of Bethlem myopathy.
Bethlem myopathy is a rare autosomal dominant myopathy characterized by slowly progressive limb-girdle muscular atrophy and weakness, and contractures of multiple joints. To identify the genetic localization we used highly polymorphic microsatellite markers in a genome-wide search in six Dutch families. After excluding genetic linkage with 52 markers distributed evenly over the autosomes, signi...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2015
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0133986